Documentation

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Publication Details

Results for Long2019:

Summary

Title	The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children
Authors	Long, S., Zhou, H., Li, S., Wang, T., Ma, Y., Li, C., Zhou, Y., Zhou, S., Wu, B., Wang, Y.
Technology	Targeted sequencing, Whole exome sequencing
Variant source	Table S1: gene and CNV
Cohorts	Chinese children
Design	Simplex
URL	https://dx.doi.org/10.3389/fneur.2019.00505
Pubmed	31139143
Subject count	32 The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count	33
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
nonframeshift deletion	1
nonframeshift substitution	1
nonsynonymous SNV	22
other	3
splicing	2
stopgain	2

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.